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目的探究PRDM9多态性与慢性粒细胞白血病(CML)遗传易感性的关系。方法应用PCR直接测序技术与DNA单克隆测序技术,对116名Ph染色体及BCR-ABL融合基因阳性CML患者(CML组)和111名健康对照人群(对照组)的PRDM9多态性做DNA序列测定分析;对比CML患者与健康人群的PRDM9多态性分布差异,并通过卡方检验来探究二者之间的关联性。结果在对照组中共发现了7种PRDM9等位基因,其中已命名的有PRDM9-A、B、C、L3及L7,另外2个为新等位基因,分别命名为X1和X2。CML组中共发了10种PRDM9等位基因,除5个已命名等位基因与对照组一样,还发现了5个新等位基因X1、X2、X5、X12及X13。CML组与对照组中PRDM9-A及B等位基因分布为分别为68.10%vs 83.78%,19.40%vs 9.91%(P<0.01),AA基因型分布为41.38%vs 71.17%,AB基因型分布为33.62%vs 15.32%(P<0.01)。此外,PRDM9基因多态性分布在中国汉族与欧洲及非洲人群中存在明显差异(P<0.01)。结论 PRDM9多态性与CML具有关联性,A及AA是CML发生的保护等位基因及基因型,B及AB是CML发生的易感等位基因及基因型。PRDM9基因多态性分布具有人群特异性。
Objective To investigate the relationship between PRDM9 polymorphism and genetic susceptibility to chronic myelogenous leukemia (CML). Methods DNA sequencing was performed on PRDM9 polymorphism in 116 Ph chromosomes, CML patients with BCR-ABL fusion gene (CML group) and 111 healthy control subjects (control group) using PCR direct sequencing and DNA sequencing. Analysis; comparison of CML patients and healthy population PRDM9 polymorphism distribution differences, and by chi-square test to explore the correlation between the two. Results Seven PRDM9 alleles were found in the control group, of which PRDM9-A, B, C, L3 and L7 were named, and the other two were new alleles, named as X1 and X2 respectively. A total of 10 PRDM9 alleles were found in the CML group. Five new alleles, X1, X2, X5, X12 and X13, were also found, in addition to the five named alleles. The distribution of PRDM9-A and B alleles in CML group and control group were 68.10% vs 83.78%, 19.40% vs 9.91% (P <0.01) respectively. The AA genotype distribution was 41.38% vs 71.17% Was 33.62% vs 15.32% (P <0.01). In addition, there was a significant difference in the distribution of PRDM9 gene between Chinese Han and European and African populations (P <0.01). Conclusion PRDM9 polymorphism is associated with CML. A and AA are the protective alleles and genotypes of CML. B and AB are susceptible alleles and genotypes of CML. PRDM9 gene polymorphism distribution with population specificity.